Variations in genotype-phenotype correlations in phenylketonuria patients.
نویسندگان
چکیده
Phenylalanine hydroxylase deficiency is a trait inherited in an autosomal recessive pattern; the associated phenotype varies considerably. This variation is mainly due to the considerable allelic heterogeneity in the phenylalanine hydroxylase enzyme locus. We examined the genotype-phenotype correlation in 54 phenylketonuria (PKU) patients from Minas Gerais, Brazil. Two systems were used. The first was a phenotype prediction system based on arbitrary values (AV) attributed to each mutation and the second was a correlation analysis. An AV was assigned to each mutation: AV = 1 for classical PKU mutation; AV = 2 for moderate PKU mutation; AV = 4 for mild PKU mutation, and AV = 8 for non-PKU hyperphenylalaninemia mutation. The observed phenotype for AV analysis was the clinical diagnosis established by the overloading phenylalanine test. Among the 51 PKU patients that we analyzed based on this trait, in 51% the predicted phenotype did not match the observed phenotype; the highest degree of concordance was found in patients with null/null genotypes. The genotype was observed to be a good predictor of the clinical course of the patients and significant correlations were found between phenylalanine values at first interview and predicted residual activity, genotype and arbitrary value sum.
منابع مشابه
Effects of Karyotype Variations on Phenotype of Patients with Turner Syndrome
Background: Turner syndrome (TS) is a sporadic disorder caused by the absence of all or some parts one X-chromosome with major developmental consequences such as short stature and ovarian failure etc. The minor manifestations of TS are cubitus valgus, micrognatism, high-arched palate, short and/or webbed neck, hypothyroidism, etc. Different karyotype abnormalities may lead to different clinical...
متن کاملMolecular Basis of Phenylketonuria: From Genotype to Clinical Management
In the age of neonatal screening and the presymptomatic treatment of individuals with phenylketonuria, disease definition has shifted from a set of clinical symptoms observed in untreated patients to an inherited predisposition that requires dietary intervention to avoid brain damage and intellectual impairment. The analysis of correlations between genotype and phenotype must thus be targeted t...
متن کاملMolecular Basis of Phenylketonuria: From Genotype to Clinical Management
In the age of neonatal screening and the presymptomatic treatment of individuals with phenylketonuria, disease definition has shifted from a set of clinical symptoms observed in untreated patients to an inherited predisposition that requires dietary intervention to avoid brain damage and intellectual impairment. The analysis of correlations between genotype and phenotype must thus be targeted t...
متن کاملMolecular Basis of Phenylketonuria: From Genotype to Clinical Management
In the age of neonatal screening and the presymptomatic treatment of individuals with phenylketonuria, disease definition has shifted from a set of clinical symptoms observed in untreated patients to an inherited predisposition that requires dietary intervention to avoid brain damage and intellectual impairment. The analysis of correlations between genotype and phenotype must thus be targeted t...
متن کاملMolecular Basis of Phenylketonuria: From Genotype to Clinical Management
In the age of neonatal screening and the presymptomatic treatment of individuals with phenylketonuria, disease definition has shifted from a set of clinical symptoms observed in untreated patients to an inherited predisposition that requires dietary intervention to avoid brain damage and intellectual impairment. The analysis of correlations between genotype and phenotype must thus be targeted t...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Genetics and molecular research : GMR
دوره 9 1 شماره
صفحات -
تاریخ انتشار 2010